ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.122_123delinsT (p.Pro41fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002353994 SCV002654598 pathogenic Hereditary cancer-predisposing syndrome 2022-08-02 criteria provided, single submitter clinical testing The c.122_123delCGinsT pathogenic mutation, located in coding exon 1 of the CDKN2A gene, results from the deletion of two nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.P41Lfs*12). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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